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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: reed uc. J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30. J Neurol. 2018. PMID: 29383513 Free PMC article.
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Albuquerque MA, Abath Neto O, Silva FM, Zanoteli E, Reed UC. Albuquerque MA, et al. Among authors: reed uc. Arq Neuropsiquiatr. 2015 Dec;73(12):993-7. doi: 10.1590/0004-282X20150168. Arq Neuropsiquiatr. 2015. PMID: 26677118 Free article.
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Abath Neto O, Heise CO, Moreno CA, Estephan EP, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira AS, Reed UC, Biancalana V, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: reed uc. Can J Neurol Sci. 2017 Jan;44(1):125-127. doi: 10.1017/cjn.2016.322. Epub 2016 Oct 17. Can J Neurol Sci. 2017. PMID: 27748205 No abstract available.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: reed uc. Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30. Neuromuscul Disord. 2017. PMID: 28818389
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC. Zanoteli E, et al. Among authors: reed uc. Clin Neurol Neurosurg. 2020 May;192:105734. doi: 10.1016/j.clineuro.2020.105734. Epub 2020 Feb 10. Clin Neurol Neurosurg. 2020. PMID: 32065942
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
Silva AMS, Rodrigo P, Moreno CAM, Mendonça RH, Estephan EP, Camelo CG, Campos ED, Dias AT, Nascimento AM, Kulikowski LD, Oliveira ASB, Reed UC, Goldfarb LG, Olivé M, Zanoteli E. Silva AMS, et al. Among authors: reed uc. J Neuropathol Exp Neurol. 2022 Aug 16;81(9):746-757. doi: 10.1093/jnen/nlac063. J Neuropathol Exp Neurol. 2022. PMID: 35898174
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